ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.465A>G (p.Val155=)

gnomAD frequency: 0.00001  dbSNP: rs774413452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001490482 SCV001695046 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956086 SCV004769010 likely benign SGCB-related disorder 2019-12-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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